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Psychological Concomitants of Morquio Syndrome (The MAP Study)

Descriptive Information
Brief Title † Psychological Concomitants of Morquio Syndrome (The MAP Study)
Official Title † Psychological Concomitants of Morquio Syndrome
Brief Summary Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal recessive genetic lysosomal storage disorder. Research thus far regarding lysosomal storage diseases (LSDs) in general, including Morquio, has primarily focused on exploring the causes of and finding a treatment for the physical aspects of the various diseases. Less attention has been paid to the psychological or emotional toll of these diseases, whether they are direct symptoms of the diseases themselves or reactions to living with a chronic progressive disease. It is well established in the health psychology literature, however, that the interaction between our physical health and our psychological health is bidirectional; that is, just as our physical health affects us emotionally (e.g. chronic pain can contribute to depression), so can our psychological health affect us physically (e.g. anxiety can contribute to feelings of chest pain). It is thus critically important to pay attention to the emotional and psychological symptoms associated with all lysosomal storage diseases, including Morquio, and expand our treatment standard of care to include mental health treatment, if necessary. The first step in understanding and treating psychological conditions in Morquio disease is determining the natural occurrence of psychological symptoms in this population in comparison with non-medical populations. As little has been done in this regard, a pilot study documenting the occurrence rate of psychological issues and overall quality of life in patients with Morquio is the first item in order and will be the focus of this study. Approximately 20 patients with Morquio disease will be invited to participate, recruited through Emory's Lysosomal Storage Disease Center, as well as through attendance at Morquio support groups and relevant regional, national and/or international meetings. Once consented, patients will be asked to complete three different self-report questionnaires, including the Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR) or Older Adult Self-Report (OASR) questionnaire, the Short Form 36-item Health Questionnaire (SF-36), and the Brief Pain Inventory (BPI). Group aggregate data only will be reported; individual questionnaire content and results will be held confidential, except as in accordance with Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent. Completion of these questionnaires will complete subjects' participation in this pilot study.
Detailed Description
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Case-Only, Time Perspective: Cross-Sectional
Primary Outcome Measure † ASEBA Self-Report
Secondary Outcome Measure † Brief Pain Inventory
Condition † Morquio Disease Mucopolysaccharidosis IV
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 20
Start Date † July 2012
Completion Date October 2013
Primary Completion Date October 2013
Eligibility Criteria † Inclusion Criteria: 1. Documented clinical diagnosis of MPS IV based on clinical signs and symptoms of MPS IV and documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic testing confirming diagnosis of MPS IV. 2. Patient is at least 18 years old. 3. Patient is not currently receiving enzyme replacement therapy for MPS IV. 4. Patient must provide written, informed consent prior to study participation. Exclusion Criteria: 1. Previous treatment with ERT 2. Previous hematopoietic stem-cell transplant 3. Patient has a clinically significant disease (with the exception of symptoms of Morquio), including clinically significant immunologic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstances that, in the opinion of the investigator, would confound the effects of Morquio upon study variables
Gender Both
Ages 18 Years - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT01752296
Organization ID IRB00058524
Secondary IDs †† BioMarin-1
Responsible Party Sponsor-Investigator
Study Sponsor † Nadia Ali, PhD
Collaborators †† BioMarin Pharmaceutical
Investigators † Principal Investigator: Nadia Ali, Ph.D., Emory University
Information Provided By
Verification Date December 2013
First Received Date † December 13, 2012
Last Updated Date December 2, 2013
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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